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Alteration of the proteostasis network of plant cells promotes the post-endoplasmic reticulum trafficking of recombinant mutant (L444P) human β-glucocerebrosidase

Gaucher disease is a prevalent lysosomal storage disease characterized by a deficiency in the activity of lysosomal acid β-glucosidase (glucocerebrosidase, GCase, EC 3.2.1.45). One of the most prevalent disease-causing mutations in humans is a L444P missense mutation in the GCase protein, which resu...

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Hlavní autoři: Babajani, Gholamreza, Kermode, Allison R
Médium: Artigo
Jazyk:Inglês
Vydáno: Landes Bioscience 2014
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4091198/
https://ncbi.nlm.nih.gov/pubmed/24713615
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4161/psb.28714
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